FANCONI ANEMIA PRESENTING AS BILATERAL DIFFUSE RETINAL OCCLUSIVE VASCULOPATHY

Purpose: To describe the ocular findings and subsequent workup of a 21-year-old woman with previously undiagnosed Fanconi anemia. Methods: Observational case report and literature review. Results: A 21-year-old healthy woman presented with bilateral retinal hemorrhages, telangiectasia, and severe ischemia with vascular leak. Systemic workup revealed anemia and thrombocytopenia. A diepoxybutane chromosomal breakage test confirmed the diagnosis of Fanconi anemia. Conclusion: Ocular complications are common in patients with Fanconi anemia and may be the presenting manifestation of the disease.